Identification of a novel compound heterozygous CYP4V2 variant in a patient with autosomal recessive retinitis pigmentosa

Identification of a novel compound heterozygous CYP4V2 variant in a patient with autosomal recessive retinitis pigmentosa

Retinitis pigmentosa (RP) belongs to a family of retinal disorders that is characterized by the progressive degeneration of rod and cone photoreceptors. The aim of the present study was to screen for possible disease-causing genetic variants in a non-consanguineous Chinese family with non-syndromic...

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Bibliographic Details
Main Authors:	Dong, S. (Author), Gong, B. (Author), Wang, T. (Author), Zhang, H. (Author), Zhen, F. (Author), Zou, T. (Author)
Format:	Article
Language:	English
Published:	Spandidos Publications 2022
Subjects:	Autosomal recessive retinitis pigmentosa Cytochrome P450 family 4 subfamily V member 2 variants whole-exome sequencing
Online Access:	View Fulltext in Publisher

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